Exploring Therapeutic Opportunities for Severe and Early Onset FSHD

Key Words: FSHD, Muscular Dystrophy

Facioscapulohumeral dystrophy (FSHD) is one of the most common forms of inherited muscular dystrophy that produces muscle wasting and leads to profound disability. Age of onset is variable, but the most severe forms manifest as infantile and childhood conditions with accompanying hearing loss and vision problems. With limited treatment options there is a need for novel therapies that can potentially halt the progression of this debilitating genetic disease. We recently discovered that a specific signaling response in the muscle cells of FSHD patients can contribute to their deaths, which likely underlies the systemic progression of muscle wasting in FSHD. Our goal is to further investigate the contribution of these pathogenic signals and to test if existing FDA-approved drugs that target these signals can demonstrate a therapeutic benefit in a mouse model of the disease. If successful, our study will identify a new class of compounds that are potentially effective for the treatment of FSHD and can be accelerated for clinical testing.